Term
| members of a pair of chromosomes carrying matching genetic information at a specific locus |
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Definition
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Term
| slightly different form of the same gene at a locus |
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Definition
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Term
| How are chromosomes arranged? |
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Definition
23 pairs
(22 pairs are autosomes, 1 pair is a sex chromosome) |
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Term
| What is DNA comprised of? |
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Definition
| deoxyribose (a nitrogen and a phosphate group) |
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Term
| What are the 2 nitrogen bases of DNA that are purines? |
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Definition
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Term
| What are the two nitrogen bases of DNA that are pyrimidine? |
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Term
| Ordinary somatic cell division for growth, differentiation, and tissue regeneration |
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Term
| Cell division that occurs only in the formation of reproductive cells (gametes) |
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Term
| Results in 2 daughter cells (diploids) with identical chromosomes and genes to the parent cell |
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Term
| Each gamete (haploid) only has 23 chromosomes – one of each type of autosome and an X or a Y. |
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| Complete picture of the chromosomes |
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Definition
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Term
| Which law states that allele pairs separate or segregate during gamete formation, and randomly unite at fertilization. |
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Definition
| Mendel's Law of Segregation and Independent Assortment |
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Term
Prohibits denying coverage, limiting eligibility, or charging more based on genetic info
Limits exclusions for pre-existing condition
Genetic information alone, in absence of current disease, not considered a preexisting condition. |
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Definition
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Term
| States that it is Illegal for health insurers to deny coverage to a healthy individual with a genetic predisposition to a specific disease |
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Definition
| Genetic Information Non-Discrimination Act of 2007 |
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Term
| Making choices on the basis of ethically relevant or irrelevant differences between things, events, or agents. |
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Definition
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Term
| The obligation of those who obtain information about individuals, either legitimately or illegitimately, to protect the privacy of that information. |
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Term
| The moral obligation to attempt to find/follow-up with a patient or family who was seen previously, if medically appropriate and desired |
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Term
| The moral obligation, usually under exceptional circumstances, to disclose information to at-risk relatives; this duty may require a health care professional to breach patient confidentiality if a person, other than the patient, is in clear and imminent danger |
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Definition
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Term
| A process in which an individual or family makes a decision based on relevant information |
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Definition
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Term
| A process in which an individual or family makes a decision based on relevant information |
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Definition
| Informed consent/assent/refusal |
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Term
| The obligation to respect the decision-making capacities of autonomous persons who have been fully informed with accurate and unbiased information |
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Definition
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Term
| Maintenance or support for family unity and completeness |
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Definition
| Preservation of Family Integrity |
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Term
| The right to control access to information about oneself |
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Definition
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Term
| Respect for the autonomy of the clinician as it pertains to the individual health care or social services professional’s moral code |
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Term
| The duty of a clinician to realize the extent of his or her knowledge, skills, attitude or behavior as they pertain to their practice and the laws, rules, regulations, standards of care and guidelines thereof |
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Definition
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Term
| Utilization/appreciation of using two or more individuals in the provision of genetic health care services |
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Definition
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Term
| Each ______ contains a single molecule of DNA |
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Definition
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Term
| Formed by DNA wrapped around histones (small positively charged proteins) |
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Term
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Definition
| adenine (A), thymine (T), cytosine (C), and guanine (G). |
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Term
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Definition
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Term
| Cytosine binds with _____ |
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Definition
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Term
| Humans have an estimated _____ genes, with an average length of_______ bases |
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Definition
| 30,000 genes; 3,000 bases |
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Term
| Sequence of DNA in the genome that is required for production of a functional product |
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Definition
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Term
| Messenger RNA (mRNA) is synthesized from the DNA template. This is known as what? |
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Definition
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Term
| Occurs within ribosomes (rRNA) in the cytoplasm. Transfer RNA (tRNA) provides the link between the mRNA and the amino acid that correlates to the genetic code. |
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Definition
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Term
| Study of chromosomes structure and their inheritance as applied to the practice of medicine |
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Definition
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Term
| The most common method for visualizing chromosomes |
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Definition
| G-banding with Giemsa stain. |
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Term
| Centromere that is off center with arms of different lengths |
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Definition
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Term
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Definition
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Term
| Centromere is near one end |
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Definition
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Term
| Two arms of the chromosome |
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Definition
p – short arm
q – long arm |
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Term
| Present in nearly 1% of all live births, 2% of pregnancies in women older than 35, and 50% of first trimester spontaneous abortions |
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Definition
| Chromosomal Abnormalities |
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Term
Abnormal number of chromosomes due to an extra or missing chromosome that is always associated with physical or mental maldevelopment or both;
Most common chromosomal abnormality |
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Definition
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Term
| Only one of a particular chromosome |
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Definition
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Term
| Three of a particular chromosome |
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Definition
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Term
| Chromosome abnormality where one arm is missing and the other arm is a mirror image – partial monosomy and partial trisomy |
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Definition
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Term
| Chromosomal abnormality where two chromosome segments fuse end to end with loss of their acentric fragments |
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Definition
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Term
| Exchange of segments between 2 nonhomologous chromosomes |
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Definition
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Term
| Total number of chromosomes is unchanged |
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Definition
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Term
| Two acrocentric chromosomes fuse near the centromere with the loss of the short arms |
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Definition
| Robersonian translocations |
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Term
| Segment removed from one chromosome and inserted into a different chromosome |
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Definition
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Term
| Individual has two or more cell populations with a different chromosomal makeup |
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Definition
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Term
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Definition
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Term
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Definition
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Term
| Abnormal #11 from mother or father (unequally) |
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Definition
| Beckwith-Wiedemann syndrome |
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Term
| Diagram of family genetic relationships that uses standard symbols and nomenclature |
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Definition
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Term
| Change in the number, structure and/or origin of one or more chromosomes that leads to an excess, deficiency or change of function of one or more genes |
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Definition
| Chromosomal Abnormalities |
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Term
| The only 3 trisomy disorders compatible with life |
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Definition
| Trisomy 21, trisomy 18 and trisomy 13. |
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Term
| All are associated with growth retardation, mental retardation and multiple congenital anomalies |
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Definition
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Term
| Most common chromosome disorder with incidence of 1 in every 800 births |
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Definition
| Trisomy 21 (Down Syndrome) |
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Term
| Hypotonia at birth, short stature, brachycephaly with a flat occiput, short neck, loose skin at the nape, flat nasal bridge, low-set ears with a folded appearance are all dysmorphic features of what disorder |
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Definition
| Trisomy 21 (Down Syndrome) |
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Term
| Average IQ is only about 60 however some are able to become self reliant and hold jobs |
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Definition
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Term
| 1/3 of all Trisomy 21 patients have this disease |
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Definition
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Term
| Risk of having a down syndrome child |
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Definition
| After the maternal age of 35 |
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Term
| The removal and analysis of a small sample of fetal cells from the amniotic fluid done at 14-18th week of pregnancy |
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Definition
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Term
| Extraction of a tiny amount of fetal tissue at 9 to 11 weeks of pregnancy that is tested for the presence of extra material from chromosome 21 |
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Definition
| Chorionic Villus Sampling |
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Term
-Most accurate method used to confirm the results of CVS or amniocentesis.
-The tissue is tested for the presence of extra material from chromosome 21
-Cannot be done until the 18-22nd week - greatest risk of miscarriage |
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Definition
| Percutaneous Umbilical Blood Sampling (PUBS) |
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Term
| Second most common autosomal aberration affecting 1/7500 live births |
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Definition
| Trisomy 18 – Edwards Syndrome |
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Term
| Most die in embryonic or fetal life – 95% are spontaneously aborted as a result of this abnormality |
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Definition
| Trisomy 18 – Edwards Syndrome |
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Term
Characterized by mental retardation, failure to thrive, severe malformation of the heart.
Hypotonia at birth, prominent occiput, receding jaw, low-set and malformed ears.
Fists clenched with second and fifth digits overlapping, rocker-bottom feet |
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Definition
| Trisomy 18- Edward's Syndrome |
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Term
| Deformities include severe central nervous system malformations, eye and ear deformities, cleft lip and palate, Congenital heart defects, polydactyly, rocker-bottom feet and urogenital defects |
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Definition
| Trisomy 13 – Patau Syndrome |
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Term
Incidence 1 in 15,000 – often results in SAb
More than 50% of children with this disorder die in the first month of life |
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Definition
| Trisomy 13 – Patau Syndrome |
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Term
May have more than 2 X chromosomes
Incidence 1 in 1000 male live births
Tall, thin, hypogonadism, gynecomastia, infertility, decreased muscle mass, loss of libido
Verbal, lower intellect, learning problems particularly reading |
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Definition
| Klinefelter’s syndrome (47,XXY) |
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Term
Incidence 1 in 1000
Hard to distinguish from nl males – normal intelligence and not dysmorphic
Tall, increased risk of educational or behavioral problems. ADHD and impulsivity are clearly documented however not violence or psychopathology as previously thought |
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Definition
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Term
Incidence 1 in 1000 female births
Tall, normal puberty and usually fertile.
Some learning disabilities and abnormal behavior especially in adolescence. |
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Definition
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Term
The only viable monosomy in humans
XO individuals are genetically female, however, they do not mature sexually during puberty and are sterile.
Short stature and normal intelligence – some learning disabilities
98% of these fetuses die before birth |
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Definition
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Term
| Autosomal recessive disorder more common in men due to less iron storage in females |
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Definition
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Term
Most common autosomal recessive disorder in caucasions
Progressive pulmonary disease, exocrine pancreatic insufficiency, decreased male fertility, elevated sweat chloride concentration, and failure to thrive |
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Definition
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Term
| Autosomal recessive disorder with increased frequency in certain populations (Ashkenazi Jews) |
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Definition
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Term
| Autosomal recessive disorder seen most often in offspring of marriages between first cousins |
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Definition
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Term
Incomplete penetrance and variable expressivity – more in males
Onset – 40-60 yrs old in males or after menopause in females |
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Definition
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